Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.H110Y
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BACE1

NM_012104.6:p.H110Y

Associated Papers

Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.

Silvaieh S et al.

Human Genomics, 2023

Both N-Terminal and C-Terminal Histidine Residues of the Prion Protein Are Essential for Copper Coordination and Neuroprotective Self-Regulation.

Schilling KM et al.

Journal of Molecular Biology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."